Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 114

1.

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Friedl W, Uhlhaas S, Schulmann K, Stolte M, Loff S, Back W, Mangold E, Stern M, Knaebel HP, Sutter C, Weber RG, Pistorius S, Burger B, Propping P.

Hum Genet. 2002 Jul;111(1):108-11. Epub 2002 Jun 13.

PMID:
12136244
2.

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.

Handra-Luca A, Condroyer C, de Moncuit C, Tepper M, Fléjou JF, Thomas G, Olschwang S.

Am J Med Genet A. 2005 Oct 1;138A(2):113-7.

PMID:
16152648
3.

The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations.

Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT.

J Med Genet. 2004 Jul;41(7):484-91.

4.

Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C.

Am J Hum Genet. 2001 Oct;69(4):704-11. Epub 2001 Aug 30.

5.

Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.

Sayed MG, Ahmed AF, Ringold JR, Anderson ME, Bair JL, Mitros FA, Lynch HT, Tinley ST, Petersen GM, Giardiello FM, Vogelstein B, Howe JR.

Ann Surg Oncol. 2002 Nov;9(9):901-6.

PMID:
12417513
6.

Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis.

Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B.

Nat Genet. 2001 Jun;28(2):184-7.

PMID:
11381269
7.

Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation.

Kim IJ, Park JH, Kang HC, Kim KH, Kim JH, Ku JL, Kang SB, Park SY, Lee JS, Park JG.

Clin Genet. 2003 Feb;63(2):126-30.

PMID:
12630959
8.

Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis.

van Hattem WA, Brosens LA, de Leng WW, Morsink FH, Lens S, Carvalho R, Giardiello FM, Offerhaus GJ.

Gut. 2008 May;57(5):623-7. doi: 10.1136/gut.2007.142927. Epub 2008 Jan 4.

PMID:
18178612
9.

Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers.

Woodford-Richens KL, Rowan AJ, Poulsom R, Bevan S, Salovaara R, Aaltonen LA, Houlston RS, Wright NA, Tomlinson IP.

Am J Pathol. 2001 Oct;159(4):1293-300.

10.

Genotype-defined cancer risk in juvenile polyposis syndrome.

Aytac E, Sulu B, Heald B, O'Malley M, LaGuardia L, Remzi FH, Kalady MF, Burke CA, Church JM.

Br J Surg. 2015 Jan;102(1):114-8. doi: 10.1002/bjs.9693. Epub 2014 Nov 12.

PMID:
25389115
11.

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W.

J Med Genet. 2007 Nov;44(11):702-9. Epub 2007 Sep 14.

12.

A family with juvenile polyposis linked to the BMPR1A locus: cryptic mutation or closely linked gene?

Chow E, Lipton L, Carvajal-Carmona LG, Arthur G, Bhathal P, Kaur G, Jaeger E, Woodford-Richens K, Howarth K, Tomlinson I, Macrae F.

J Gastroenterol Hepatol. 2007 Dec;22(12):2292-7. Epub 2007 Jun 15.

PMID:
17573831
13.

Gastric juvenile polyposis associated with germline SMAD4 mutation.

Shikata K, Kukita Y, Matsumoto T, Esaki M, Yao T, Mochizuki Y, Hayashi K, Iida M.

Am J Med Genet A. 2005 Apr 30;134(3):326-9.

PMID:
15754356
14.

No TGFBRII germline mutations in juvenile polyposis patients without SMAD4 or BMPR1A mutation.

Brosens LA, van Hattem WA, Kools MC, Ezendam C, Morsink FH, de Leng WW, Giardiello FM, Offerhaus GJ.

Gut. 2009 Jan;58(1):154-6. doi: 10.1136/gut.2008.161232. No abstract available.

15.

Mutation screening in juvenile polyposis syndrome.

Pyatt RE, Pilarski R, Prior TW.

J Mol Diagn. 2006 Feb;8(1):84-8.

16.

Frequent 4-bp deletion in exon 9 of the SMAD4/MADH4 gene in familial juvenile polyposis patients.

Friedl W, Kruse R, Uhlhaas S, Stolte M, Schartmann B, Keller KM, Jungck M, Stern M, Loff S, Back W, Propping P, Jenne DE.

Genes Chromosomes Cancer. 1999 Aug;25(4):403-6.

PMID:
10398437
17.

A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).

Gallione CJ, Repetto GM, Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA.

Lancet. 2004 Mar 13;363(9412):852-9.

PMID:
15031030
18.

Increased cyclooxygenase-2 expression in juvenile polyposis syndrome.

van Hattem WA, Brosens LA, Marks SY, Milne AN, van Eeden S, Iacobuzio-Donahue CA, Ristimäki A, Giardiello FM, Offerhaus GJ.

Clin Gastroenterol Hepatol. 2009 Jan;7(1):93-7. doi: 10.1016/j.cgh.2008.07.030. Epub 2008 Aug 5.

19.

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C.

Gastroenterology. 2013 Jun;144(7):1402-9, 1409.e1-5. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.

20.

The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.

Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR.

Clin Genet. 2009 Jan;75(1):79-85. doi: 10.1111/j.1399-0004.2008.01091.x. Epub 2008 Sep 24.

PMID:
18823382
Items per page

Supplemental Content

Write to the Help Desk